The story of Rebecca
My name is Becky and in 2015 I was told that I needed a stem cell transplant for a rare genetic mutation called GATA 2 deficiency.
After years of various illnesses including multiple blood clots my health had gradually been deteriorating, so my consultant sent me for a bone marrow biopsy which was abnormal and resulted in me going to London to see specialists. The specialists there found that my bone marrow was beginning to fail showing signs of MDS and they found I had the Gata2 mutation and monosomy 7. Although it is a genetic mutation neither of my parents have the gene and it is thought to have mutated during the conception stage.
Gata2 affects people in different ways but for me it meant skin problems as a child and unexplained joint pains, in my twenties I developed multiple blood clots in my lungs and since then had recurring infections of all types you name it I probably had it at some point. It also meant neutropenia and pernicious anaemia. bronchiectasis, lymphedema and hyper mobility is a symptom I also live with. The transplant and chemo alongside my other problems mean I have developed osteopenia and I have many joint problems.
Now I am two years post transplant and I am still here thanks to my donor! I still have multiple problems relating to the Gata2 and stem cell transplant but you learn to live with these things the best you can and enjoy the small things.
My blog follows my stem cell transplant journey throughout and I continue to update my story http://beckyb8.wixsite.com/stemcelltransplant
http://beckyb8.wixsite.com/stemcelltransplant
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